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ArticlesPeer ReviewedFull Text
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Author / Creator:Boonsawat, Paranchai ; Joset, Pascal ; Steindl, Katharina ; Oneda, Beatrice ; Gogoll, Laura ; Azzarello-Burri, Silvia ; Sheth, Frenny ; Datar, Chaitanya ; Verma, Ishwar C. ; Puri, Ratna Dua ; Zollino, Marcella ; Bachmann-Gagescu, Ruxandra ; Niedrist, Dunja ; Papik, Michael ; Figueiro-Silva, Joana ; Masood, Rahim ; Zweier, Markus ; Kraemer, Dennis ; Lincoln, Sharyn ; Rodan, Lance ; Passemard, Sandrine ; Drunat, Séverine ; Verloes, Alain ; Horn, Anselm H.C. ; Sticht, Heinrich ; Steinfeld, Robert ; Plecko, Barbara ; Latal, Beatrice ; Jenni, Oskar ; Asadollahi, Reza ; Rauch, Anita
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.2043-2058
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Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors
Author / Creator:Kohler, Corina ; Radpour, Ramin ; Barekati, Zeinab ; Asadollahi, Reza ; Bitzer, Johannes ; Wight, Edward ; Bürki, Nicole ; Diesch, Claude ; Holzgreve, Wolfgang ; Zhong, Xiao Yan
Publisher:England: BioMed Central Ltd
Journal title:Molecular cancer, 2009-11, Vol.8 (1), p.105-105, Article 105
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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Author / Creator:Begemann, Anaïs ; Acuña, Mario A. ; Zweier, Markus ; Vincent, Marie ; Steindl, Katharina ; Bachmann-Gagescu, Ruxandra ; Hackenberg, Annette ; Abela, Lucia ; Plecko, Barbara ; Kroell-Seger, Judith ; Baumer, Alessandra ; Yamakawa, Kazuhiro ; Inoue, Yushi ; Asadollahi, Reza ; Sticht, Heinrich ; Zeilhofer, Hanns Ulrich ; Rauch, Anita
Publisher:England: BioMed Central
Journal title:Molecular medicine (Cambridge, Mass.), 2019-02, Vol.25 (1), p.6-6, Article 6
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The clinical significance of small copy number variants in neurodevelopmental disorders
Author / Creator:Asadollahi, Reza ; Oneda, Beatrice ; Joset, Pascal ; Azzarello-Burri, Silvia ; Bartholdi, Deborah ; Steindl, Katharina ; Vincent, Marie ; Cobilanschi, Joana ; Sticht, Heinrich ; Baldinger, Rosa ; Reissmann, Regina ; Sudholt, Irene ; Thiel, Christian T ; Ekici, Arif B ; Reis, André ; Bijlsma, Emilia K ; Andrieux, Joris ; Dieux, Anne ; FitzPatrick, David ; Ritter, Susanne ; Baumer, Alessandra ; Latal, Beatrice ; Plecko, Barbara ; Jenni, Oskar G ; Rauch, Anita
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-10, Vol.51 (10), p.677-688
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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability
Author / Creator:Asadollahi, Reza ; Oneda, Beatrice ; Sheth, Frenny ; Azzarello-Burri, Silvia ; Baldinger, Rosa ; Joset, Pascal ; Latal, Beatrice ; Knirsch, Walter ; Desai, Soaham ; Baumer, Alessandra ; Houge, Gunnar ; Andrieux, Joris ; Rauch, Anita
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1100-1104
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ArticlesPeer ReviewedFull Text
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)
Author / Creator:Asadollahi, Reza ; Britschgi, Christian ; Joset, Pascal ; Oneda, Beatrice ; Schindler, Detlev ; Meier, Urs R. ; Rauch, Anita
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1409-n/a
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Avicenna’s view on medical genetics
Author / Creator:Asadollahi, Reza ; Asadollahi, Hamid
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2013-05, Vol.15 (5), p.410-411
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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Author / Creator:Popp, Bernt ; Krumbiegel, Mandy ; Grosch, Janina ; Sommer, Annika ; Uebe, Steffen ; Kohl, Zacharias ; Plötz, Sonja ; Farrell, Michaela ; Trautmann, Udo ; Kraus, Cornelia ; Ekici, Arif B. ; Asadollahi, Reza ; Regensburger, Martin ; Günther, Katharina ; Rauch, Anita ; Edenhofer, Frank ; Winkler, Jürgen ; Winner, Beate ; Reis, André
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-11, Vol.8 (1), p.17201-14, Article 17201
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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
Author / Creator:Papuc, Sorina M. ; Abela, Lucia ; Steindl, Katharina ; Begemann, Anaïs ; Simmons, Thomas L. ; Schmitt, Bernhard ; Zweier, Markus ; Oneda, Beatrice ; Socher, Eileen ; Crowther, Lisa M. ; Wohlrab, Gabriele ; Gogoll, Laura ; Poms, Martin ; Seiler, Michelle ; Papik, Michael ; Baldinger, Rosa ; Baumer, Alessandra ; Asadollahi, Reza ; Kroell-Seger, Judith ; Schmid, Regula ; Iff, Tobias ; Schmitt-Mechelke, Thomas ; Otten, Karoline ; Hackenberg, Annette ; Addor, Marie-Claude ; Klein, Andrea ; Azzarello-Burri, Silvia ; Sticht, Heinrich ; Joset, Pascal ; Plecko, Barbara ; Rauch, Anita
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.408-421
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Author / Creator:Begemann, Anaïs ; Sticht, Heinrich ; Begtrup, Amber ; Vitobello, Antonio ; Faivre, Laurence ; Banka, Siddharth ; Alhaddad, Bader ; Asadollahi, Reza ; Becker, Jessica ; Bierhals, Tatjana ; Brown, Kathleen E. ; Bruel, Ange-Line ; Brunet, Theresa ; Carneiro, Maryline ; Cremer, Kirsten ; Day, Robert ; Denommé-Pichon, Anne-Sophie ; Dyment, Dave A. ; Engels, Hartmut ; Fisher, Rachel ; Goh, Elaine S. ; Hajianpour, M. J. ; Haertel, Lucia Ribeiro Machado ; Hauer, Nadine ; Hempel, Maja ; Herget, Theresia ; Johannsen, Jessika ; Kraus, Cornelia ; Le Guyader, Gwenaël ; Lesca, Gaetan ; Mau-Them, Frédéric Tran ; McDermott, John Henry ; McWalter, Kirsty ; Meyer, Pierre ; Õunap, Katrin ; Popp, Bernt ; Reimand, Tiia ; Riedhammer, Korbinian M. ; Russo, Martina ; Sadleir, Lynette G. ; Saenz, Margarita ; Schiff, Manuel ; Schuler, Elisabeth ; Syrbe, Steffen ; Van der Ven, Amelie Theresa ; Verloes, Alain ; Willems, Marjolaine ; Zweier, Christiane ; Steindl, Katharina ; Zweier, Markus ; Rauch, Anita
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-03, Vol.23 (3), p.543-554
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Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
Author / Creator:Asadollahi, Reza ; Strauss, Justin E ; Zenker, Martin ; Beuing, Oliver ; Edvardson, Simon ; Elpeleg, Orly ; Strom, Tim M ; Joset, Pascal ; Niedrist, Dunja ; Otte, Christine ; Oneda, Beatrice ; Boonsawat, Paranchai ; Azzarello-Burri, Silvia ; Bartholdi, Deborah ; Papik, Michael ; Zweier, Markus ; Haas, Cordula ; Ekici, Arif B ; Baumer, Alessandra ; Boltshauser, Eugen ; Steindl, Katharina ; Nothnagel, Michael ; Schinzel, Albert ; Stoeckli, Esther T ; Rauch, Anita
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.197-209
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Correlation of telomere length shortening with promoter methylation profile of p16/Rb and p53/p21 pathways in breast cancer
Author / Creator:Radpour, Ramin ; Barekati, Zeinab ; Haghighi, Mahdi Montazer ; Kohler, Corina ; Asadollahi, Reza ; Torbati, Peyman Mohammadi ; Holzgreve, Wolfgang ; Zhong, Xiao Yan
Publisher:New York: Nature Publishing Group US
Journal title:Modern pathology, 2010-05, Vol.23 (5), p.763-772
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Author / Creator:Begemann, Anaïs ; Sticht, Heinrich ; Begtrup, Amber ; Vitobello, Antonio ; Faivre, Laurence ; Banka, Siddharth ; Alhaddad, Bader ; Asadollahi, Reza ; Becker, Jessica ; Bierhals, Tatjana ; Brown, Kathleen ; Bruel, Ange-Line ; Brunet, Theresa ; Carneiro, Maryline ; Cremer, Kirsten ; Day, Robert ; Denommé-Pichon, Anne-Sophie ; Dyment, Dave ; Engels, Hartmut ; Fisher, Rachel ; Goh, Elaine ; Hajianpour, M.J. ; Haertel, Lucia Ribeiro Machado ; Hauer, Nadine ; Hempel, Maja ; Herget, Theresia ; Johannsen, Jessika ; Kraus, Cornelia ; Le Guyader, Gwenaël ; Lesca, Gaetan ; Mau-Them, Frédéric Tran ; Mcdermott, John Henry ; Mcwalter, Kirsty ; Meyer, Pierre ; Õunap, Katrin ; Popp, Bernt ; Reimand, Tiia ; Riedhammer, Korbinian ; Russo, Martina ; Sadleir, Lynette ; Saenz, Margarita ; Schiff, Manuel ; Schuler, Elisabeth ; Syrbe, Steffen ; van der Ven, Amelie Theresa ; Verloes, Alain ; Willems, Marjolaine ; Zweier, Christiane ; Steindl, Katharina ; Zweier, Markus ; Rauch, Anita
Publisher:Nature Publishing Group
Journal title:Genetics in medicine, 2021-03, Vol.23 (3), p.543-554
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Postoperative back pain following epidural anesthesia: Can dexamethasone help#x003F
Author / Creator:Saghafinia, Masoud ; Nafissi, Nahid ; Motamedi, Mohammad Hosein ; Asadollahi, Reza
Publisher:Medknow Publications and Media Pvt. Ltd
Journal title:Asian journal of pharmaceutics, 2009-07, Vol.3 (3), p.261
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Postoperative back pain following epidural anesthesia: Can dexamethasone help?
Author / Creator:Motamedi, Mohammad HoseinKalantar ; Asadollahi, Reza ; Saghafinia, Masoud ; Nafissi, Nahid
Publisher:Mandsaur: Mandsaur Institute of Pharmacy, Mandsaur University Campus
Journal title:Asian journal of pharmaceutics, 2009-07, Vol.3 (3), p.261
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ArticlesFull Text
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Author / Creator:Popp, Bernt ; Krumbiegel, Mandy ; Grosch, Janina ; Sommer, Annika ; Uebe, Steffen ; Kohl, Zacharias ; Ploetz, Sonja ; Farrell, Michaela ; Trautmann, Udo ; Kraus, Cornelia ; Ekici, Arif B ; Asadollahi, Reza ; Regensburger, Martin ; Guenther, Katharina ; Rauch, Anita ; Edenhofer, Frank ; Winkler, Juergen ; Winner, Beate ; Reis, Andre
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-08
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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

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Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

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The clinical significance of small copy number variants in neurodevelopmental disorders

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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

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Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)

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Avicenna’s view on medical genetics

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

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Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

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Correlation of telomere length shortening with promoter methylation profile of p16/Rb and p53/p21 pathways in breast cancer

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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

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Postoperative back pain following epidural anesthesia: Can dexamethasone help#x003F

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Postoperative back pain following epidural anesthesia: Can dexamethasone help?

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

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